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Aliases for SARDH Gene

Aliases for SARDH Gene

  • Sarcosine Dehydrogenase 2 3 5
  • DMGDHL1 3 4
  • BPR-2 3 4
  • Dimethylglycine Dehydrogenase-Like 1 3
  • EC 4
  • SarDH 4
  • SARD 3
  • SAR 3
  • SDH 3

External Ids for SARDH Gene

Previous HGNC Symbols for SARDH Gene


Previous GeneCards Identifiers for SARDH Gene

  • GC09M127604
  • GC09P128054
  • GC09M129954
  • GC09M131870
  • GC09M133558
  • GC09M135518
  • GC09M136528
  • GC09M106029

Summaries for SARDH Gene

Entrez Gene Summary for SARDH Gene

  • This gene encodes an enzyme localized to the mitochondrial matrix which catalyzes the oxidative demethylation of sarcosine. This enzyme is distinct from another mitochondrial matrix enzyme, dimethylglycine dehydrogenase, which catalyzes a reaction resulting in the formation of sarcosine. Mutations in this gene are associated with sarcosinemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Oct 2008]

GeneCards Summary for SARDH Gene

SARDH (Sarcosine Dehydrogenase) is a Protein Coding gene. Diseases associated with SARDH include Sarcosinemia and Dimethylglycine Dehydrogenase Deficiency. Among its related pathways are Metabolism and Glycerophospholipid biosynthesis. GO annotations related to this gene include oxidoreductase activity and sarcosine dehydrogenase activity. An important paralog of this gene is AMT.

Gene Wiki entry for SARDH Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SARDH Gene

Genomics for SARDH Gene

Regulatory Elements for SARDH Gene

Enhancers for SARDH Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SARDH on UCSC Golden Path with GeneCards custom track

Promoters for SARDH Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SARDH on UCSC Golden Path with GeneCards custom track

Genomic Location for SARDH Gene

133,661,740 bp from pter
133,739,955 bp from pter
78,216 bases
Minus strand

Genomic View for SARDH Gene

Genes around SARDH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SARDH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SARDH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SARDH Gene

Proteins for SARDH Gene

  • Protein details for SARDH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Sarcosine dehydrogenase, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • B2RMR5
    • B4DPI2
    • B7ZLT6
    • Q5SYV0
    • Q9Y280
    • Q9Y2Y3

    Protein attributes for SARDH Gene

    918 amino acids
    Molecular mass:
    101037 Da
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    No Data Available
    • Sequence=AAD33412.1; Type=Frameshift; Positions=867; Evidence={ECO:0000305};

    Alternative splice isoforms for SARDH Gene


neXtProt entry for SARDH Gene

Proteomics data for SARDH Gene at MOPED

Post-translational modifications for SARDH Gene

  • Ubiquitination at Lys 713, Lys 757, and Lys 884
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SARDH Gene

Domains & Families for SARDH Gene

Suggested Antigen Peptide Sequences for SARDH Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the GcvT family.
  • Belongs to the GcvT family.
genes like me logo Genes that share domains with SARDH: view

No data available for Gene Families for SARDH Gene

Function for SARDH Gene

Molecular function for SARDH Gene

GENATLAS Biochemistry:
sarcosine dehydrogenase,catalyzing qlycine synthesis,"one-carbone" metabolism,liver motochondrial flavoenzyme
UniProtKB/Swiss-Prot CatalyticActivity:
Sarcosine + H(2)O + electron-transfer flavoprotein = glycine + formaldehyde + reduced electron-transfer flavoprotein.

Enzyme Numbers (IUBMB) for SARDH Gene

Gene Ontology (GO) - Molecular Function for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with SARDH: view
genes like me logo Genes that share phenotypes with SARDH: view

Human Phenotype Ontology for SARDH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SARDH Gene

Localization for SARDH Gene

Subcellular locations from UniProtKB/Swiss-Prot for SARDH Gene

Mitochondrion matrix.

Subcellular locations from

Jensen Localization Image for SARDH Gene COMPARTMENTS Subcellular localization image for SARDH gene
Compartment Confidence
mitochondrion 5
cytosol 2
peroxisome 2

No data available for Gene Ontology (GO) - Cellular Components for SARDH Gene

Pathways & Interactions for SARDH Gene

genes like me logo Genes that share pathways with SARDH: view

UniProtKB/Swiss-Prot Q9UL12-SARDH_HUMAN

  • Pathway: Amine and polyamine degradation; sarcosine degradation; formaldehyde and glycine from sarcosine: step 1/1.

Interacting Proteins for SARDH Gene

Gene Ontology (GO) - Biological Process for SARDH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042426 choline catabolic process TAS --
genes like me logo Genes that share ontologies with SARDH: view

No data available for SIGNOR curated interactions for SARDH Gene

Drugs & Compounds for SARDH Gene

(10) Drugs for SARDH Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Glycine Approved Nutra Full agonist, Agonist Endogenous potentiator, co-transmitter 197
spermine Approved Nutra Full agonist, Agonist 0
Flavin Mononucleotide Experimental Pharma 6
Formaldehyde Experimental Pharma 78

(9) Additional Compounds for SARDH Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (methylamino)-Acetate
  • (methylamino)-Acetic acid
  • (Methylamino)acetate
  • (Methylamino)acetic acid
  • (Methylamino)ethanoate
  • N'-Acetylspermine
  • N'-Monoacetylspermine
  • N(1)-Acetylspermine
  • N-(3-((4-((3-Aminopropyl)amino)butyl)amino)propyl)-Acetamide
  • N-Acetylspermine
  • -1,3-propanediamine
  • 1,7-Diamino-4-azaheptane
  • 3, 3'-Diaminodipropylamine
  • 3, {3'-Iminobis[propylamine]}
  • 3,3'-Diamino-Dipropylamine
  • Dihydrogen oxide
  • Steam
genes like me logo Genes that share compounds with SARDH: view

Transcripts for SARDH Gene

Unigene Clusters for SARDH Gene

Sarcosine dehydrogenase:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SARDH Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16
SP1: -

Relevant External Links for SARDH Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SARDH Gene

mRNA expression in normal human tissues for SARDH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SARDH Gene

This gene is overexpressed in Liver (x24.0) and Pancreas (x7.3).

Protein differential expression in normal tissues from HIPED for SARDH Gene

This gene is overexpressed in Gallbladder (32.7) and Liver (22.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for SARDH Gene

SOURCE GeneReport for Unigene cluster for SARDH Gene Hs.198003

genes like me logo Genes that share expression patterns with SARDH: view

Protein tissue co-expression partners for SARDH Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for SARDH Gene

Orthologs for SARDH Gene

This gene was present in the common ancestor of animals.

Orthologs for SARDH Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SARDH 35
  • 86.75 (n)
  • 87.47 (a)
  • 87 (a)
(Canis familiaris)
Mammalia SARDH 35
  • 88.33 (n)
  • 91.14 (a)
  • 91 (a)
(Mus musculus)
Mammalia Sardh 35
  • 85.26 (n)
  • 88.67 (a)
Sardh 16
Sardh 36
  • 88 (a)
(Pan troglodytes)
Mammalia SARDH 35
  • 99.13 (n)
  • 99.02 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Sardh 35
  • 85.26 (n)
  • 88.67 (a)
(Monodelphis domestica)
Mammalia SARDH 36
  • 84 (a)
(Ornithorhynchus anatinus)
Mammalia SARDH 36
  • 84 (a)
(Gallus gallus)
Aves SARDH 35
  • 77.36 (n)
  • 81.71 (a)
  • 81 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 73 (a)
-- 36
  • 81 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sardh 35
  • 74.07 (n)
  • 80.91 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12682 35
(Danio rerio)
Actinopterygii sardh 35
  • 70.69 (n)
  • 78.94 (a)
zgc56363 35
sardh 36
  • 76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3626 37
  • 30 (a)
CG6385 37
  • 50 (a)
CG6385 35
  • 56.73 (n)
  • 52.16 (a)
CG6385 36
  • 49 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007123 35
  • 56.72 (n)
  • 49.77 (a)
(Caenorhabditis elegans)
Secernentea Y106G6H.5 37
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
CSA.2141 36
  • 42 (a)
Species with no ortholog for SARDH:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SARDH Gene

Gene Tree for SARDH (if available)
Gene Tree for SARDH (if available)

Paralogs for SARDH Gene

Paralogs for SARDH Gene

(4) SIMAP similar genes for SARDH Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with SARDH: view

Variants for SARDH Gene

Sequence variations from dbSNP and Humsavar for SARDH Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs2073817 - 133,694,338(-) CCACC(A/G)TGGGG nc-transcript-variant, reference, missense
rs886016 - 133,690,507(-) TGGCC(A/G)TGGGC nc-transcript-variant, reference, missense
rs35559818 - 133,734,110(+) CATGC(A/C)CCGGG nc-transcript-variant, reference, missense
rs35218200 - 133,717,360(+) GTCTT(A/C/T)TCCAG nc-transcript-variant, reference, missense
VAR_069272 Sarcosinemia (SARCOS)

Structural Variations from Database of Genomic Variants (DGV) for SARDH Gene

Variant ID Type Subtype PubMed ID
esv2739138 CNV Deletion 23290073
nsv894081 CNV Loss 21882294
nsv894086 CNV Gain 21882294
nsv894094 CNV Loss 21882294
nsv894100 CNV Gain 21882294
dgv8332n71 CNV Loss 21882294
nsv894108 CNV Loss 21882294
nsv894110 CNV Loss 21882294
nsv466619 CNV Loss 19166990
dgv8333n71 CNV Loss 21882294
esv998446 CNV Deletion 20482838
nsv512123 CNV Loss 21212237
esv2739171 CNV Deletion 23290073
esv21852 CNV Gain 19812545
nsv511411 CNV Loss 21212237
esv2739172 CNV Deletion 23290073
nsv894113 CNV Loss 21882294
nsv894114 CNV Loss 21882294
nsv482984 CNV Gain 15286789
esv4163 CNV Deletion 18987735
esv2739174 CNV Deletion 23290073
esv2659744 CNV Deletion 23128226
nsv466620 CNV Loss 19166990
nsv469907 CNV Loss 18288195
nsv8576 CNV Gain 18304495
esv2739175 CNV Deletion 23290073
esv2739176 CNV Deletion 23290073
esv2739177 CNV Deletion 23290073
esv995816 CNV Deletion 20482838
esv2739178 CNV Deletion 23290073
nsv894115 CNV Gain 21882294
nsv519503 CNV Gain 19592680
nsv894116 CNV Gain+Loss 21882294
esv2677820 CNV Deletion 23128226
dgv95n68 CNV Loss 17160897
nsv894117 CNV Loss 21882294

Variation tolerance for SARDH Gene

Residual Variation Intolerance Score: 88.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SARDH Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SARDH Gene

Disorders for SARDH Gene

MalaCards: The human disease database

(2) MalaCards diseases for SARDH Gene - From: GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • hypersarcosinemia
dimethylglycine dehydrogenase deficiency
  • dimethylglycine dehydrogenase
- elite association - COSMIC cancer census association via MalaCards
Search SARDH in MalaCards View complete list of genes associated with diseases


  • Sarcosinemia (SARCOS) [MIM:268900]: A metabolic disorder characterized by an increased concentration of sarcosine in plasma and an increased excretion of sarcosine in urine. Sarcosinemia is most probably a benign condition without significant clinical problems. Some reports have associated sarcosinemia with mental retardation and neurologic problems. {ECO:0000269 PubMed:10444331, ECO:0000269 PubMed:22825317}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for SARDH Gene


Relevant External Links for SARDH

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with SARDH: view

Publications for SARDH Gene

  1. Cloning and mapping of the cDNA for human sarcosine dehydrogenase, a flavoenzyme defective in patients with sarcosinemia. (PMID: 10444331) Eschenbrenner M. … Jorns M.S. (Genomics 1999) 2 3 4 23 67
  2. Expression of sarcosine metabolism-related proteins in invasive lobular carcinoma: comparison to invasive ductal carcinoma. (PMID: 25837163) Cha Y.J. … Koo J.S. (Yonsei Med. J. 2015) 3
  3. TMEFF2 and SARDH cooperate to modulate one-carbon metabolism and invasion of prostate cancer cells. (PMID: 23824605) Green T. … Ruiz-EchevarrA-a M.J. (Prostate 2013) 3
  4. Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia. (PMID: 22825317) Bar-joseph I. … Anikster Y. (Hum. Genet. 2012) 3
  5. A census of human soluble protein complexes. (PMID: 22939629) Havugimana P.C. … Emili A. (Cell 2012) 3

Products for SARDH Gene

Sources for SARDH Gene